rs121913105

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	6.6	Achondroplasia/dwarfism

Make rs121913105(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1806163

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs121913105
dbSNP (classic)	rs121913105
ClinGen	rs121913105
ebi	rs121913105
HLI	rs121913105
Exac	rs121913105
Gnomad	rs121913105
Varsome	rs121913105
LitVar	rs121913105
Map	rs121913105
PheGenI	rs121913105
Biobank	rs121913105
1000 genomes	rs121913105
hgdp	rs121913105
ensembl	rs121913105
geneview	rs121913105
scholar	rs121913105
google	rs121913105
pharmgkb	rs121913105
gwascentral	rs121913105
openSNP	rs121913105
23andMe	rs121913105
SNPshot	rs121913105
SNPdbe	rs121913105
MSV3d	rs121913105
GWAS Ctlg	rs121913105

Max Magnitude

6.6

rs121913105, also known as Lys650Met or K650M, is a mutation in the FGFR3 gene on chromosome 4.

Acting in an autosomal dominant manner, the rs121913105(T) allele is considered to cause achondroplasia, or at least a term called "SADDAN dysplasia"; see also OMIM 134934.0015.

Note that 23andMe refers to this SNP as i5001274 and i6010277.

OMIM	134934
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121913105(C;C) rs121913105(T;T)
Alt	rs121913105(C;C) rs121913105(T;T)
Reference	Rs121913105(A;A)
Significance	Pathogenic
Disease	Hypochondroplasia SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS Thanatophoric dysplasia type 1
Variation	info
Gene	FGFR3
CLNDBN	Hypochondroplasia SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS Thanatophoric dysplasia type 1
Reversed	0
HGVS	NC_000004.11:g.1807890A>C; NC_000004.11:g.1807890A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056100.1, RCV000017749.29, RCV000017750.30,